Polydystrophic oligophrenia, also known as Oliver-McFarlane syndrome, is a rare genetic disorder characterized by a combination of intellectual disability (oligophrenia) and numerous physical abnormalities (polydystrophy). The term "polydystrophy" indicates the presence of multiple abnormal developments in different body systems.
Individuals with polydystrophic oligophrenia typically have severe cognitive impairment, usually in the moderate to profound range, causing significant intellectual and developmental delays. They may have difficulty with speech, learning, and daily functioning. Additionally, affected individuals often exhibit distinctive facial features, including a prominent forehead, triangular face, widely spaced eyes, and a small nose and jaw. Other physical manifestations of this condition can include skeletal abnormalities such as scoliosis (curvature of the spine), joint contractures, and abnormalities of the limbs.
Polydystrophic oligophrenia is caused by mutations in the AFF2 gene, located on the X chromosome. This gene provides instructions for producing a protein called AF4/FMR2 family member 2, which is involved in the regulation of gene expression. Mutations in the AFF2 gene disrupt normal protein function and lead to the characteristic features of this syndrome.
Management of polydystrophic oligophrenia primarily focuses on providing supportive care and addressing the individual's specific needs. Treatment may involve occupational and speech therapy to improve communication skills and enhance daily living abilities. Regular monitoring and management of associated medical conditions, such as scoliosis or seizures, may also be required.
